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    Slc14a1 solute carrier family 14 (urea transporter), member 1 [ Mus musculus (house mouse) ]

    Gene ID: 108052, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Slc14a1provided by MGI
    Official Full Name
    solute carrier family 14 (urea transporter), member 1provided by MGI
    Primary source
    MGI:MGI:1351654
    See related
    Ensembl:ENSMUSG00000059336 AllianceGenome:MGI:1351654
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    UT-B; Utb1; 2610507K20Rik; 3021401A05Rik
    Summary
    Enables urea transmembrane transporter activity and water transmembrane transporter activity. Acts upstream of or within establishment of localization in cell; urea transport; and water transport. Located in basolateral plasma membrane. Is expressed in several structures, including central nervous system; genitourinary system; limb; musculature; and sensory organ. Orthologous to human SLC14A1 (solute carrier family 14 member 1 (Kidd blood group)). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in ovary adult (RPKM 19.4), bladder adult (RPKM 19.2) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Slc14a1 in Genome Data Viewer
    Location:
    18 E3; 18 52.49 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (78143306..78185334, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (78100091..78142119, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2514 Neighboring gene ectopic P-granules 5 autophagy tethering factor Neighboring gene sialic acid binding Ig-like lectin 15 Neighboring gene STARR-seq mESC enhancer starr_45139 Neighboring gene predicted gene, 36338 Neighboring gene solute carrier family 14 (urea transporter), member 2 Neighboring gene STARR-positive B cell enhancer mm9_chr18:78408899-78409200 Neighboring gene STARR-seq mESC enhancer starr_45142 Neighboring gene STARR-seq mESC enhancer starr_45143 Neighboring gene predicted gene, 54027 Neighboring gene VISTA enhancer mm173 Neighboring gene 60S ribosomal protein L17 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. UT-B-deficient mice develop renal dysfunction and structural damage. Zhou L, et al. BMC Nephrol, 2012 Jan 30. PMID 22289137, Free PMC Article
    2. Lack of UT-B in vasa recta and red blood cells prevents urea-induced improvement of urinary concentrating ability. Bankir L, et al. Am J Physiol Renal Physiol, 2004 Jan. PMID 12965892
    3. UT-B1 urea transporter is expressed along the urinary and gastrointestinal tracts of the mouse. Lucien N, et al. Am J Physiol Regul Integr Comp Physiol, 2005 Apr. PMID 15563580
    4. Urea and urine concentrating ability: new insights from studies in mice. Yang B, et al. Am J Physiol Renal Physiol, 2005 May. PMID 15821253
    5. The erythrocyte urea transporter UT-B. Bagnasco SM. J Membr Biol, 2006. PMID 17264984

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibition of Urea Transporter (UT)-B Modulates LPS-Induced Inflammatory Responses in BV2 Microglia and N2a Neuroblastoma Cells.
      Title: Inhibition of Urea Transporter (UT)-B Modulates LPS-Induced Inflammatory Responses in BV2 Microglia and N2a Neuroblastoma Cells.
    2. Water transport mediated by murine urea transporters: implications for urine concentration mechanisms.
      Title: Water transport mediated by murine urea transporters: implications for urine concentration mechanisms.
    3. results suggest that the depletion of SLC14alpha1 gene in mice may contribute to the HS-induced abnormality of sodium transportation in the CSF
      Title: High salt diet elevates the mean arterial pressure of SLC14α1 gene depletion mice.
    4. functional deficiency of all UTs caused a urea-selective urine-concentrating defect with little physiological abnormality in extrarenal organs.
      Title: Generation and phenotypic analysis of mice lacking all urea transporters.
    5. We conclude that transgenic expression of UT-A1 restores basal urea permeability to the level in wild-type mice but does not restore vasopressin-stimulated levels of urea permeability. This information suggests that transgenic expression of UT-A1 alone in mice lacking UT-A1 and UT-A3 is sufficient to restore urine-concentrating ability
      Title: Transgenic Restoration of Urea Transporter A1 Confers Maximal Urinary Concentration in the Absence of Urea Transporter A3.
    6. These results demonstrate that the descending thin limb (DTL) of the intermediate loop is composed of type I epithelium and expresses both UT-A2. The functional role of the DTL of the intermediate loop may be distinct from the short or long loops.
      Title: Descending thin limb of the intermediate loop expresses both aquaporin 1 and urea transporter A2 in the mouse kidney.
    7. Studies indicate that urea transporter Slc14a1 UT-B is an indispensable transporter involved in maintaining physiological functions in different tissues.
      Title: Extrarenal phenotypes of the UT-B knockout mouse.
    8. Studies indicate that expression of urea transporter UT-B confers high urea permeability to erythrocytes.
      Title: Transport characteristics of urea transporter-B.
    9. Data suggest that urea transporter UT-B may play an important role in protecting bladder urothelium by balancing intracellular urea concentration.
      Title: Urea transporter UT-B deletion induces DNA damage and apoptosis in mouse bladder urothelium.
    10. Thienoquinoline PU-14 is a selective UT inhibitor and has urea-selective diuretic activity.
      Title: A novel small-molecule thienoquinolin urea transporter inhibitor acts as a potential diuretic.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (1)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables urea channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables urea channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables urea transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables urea transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables water transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within establishment of localization in cell IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in urea transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in urea transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in urea transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within urea transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in urea transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within water transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within water transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    urea transporter 1
    Names
    solute carrier family 14 member 1
    urea transporter B
    urea transporter, erythrocyte

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001171010.1 → NP_001164481.1  urea transporter 1 isoform a

      See identical proteins and their annotated locations for NP_001164481.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC112792, BC062816, BC086673, BY231473
      Consensus CDS
      CCDS50330.1
      UniProtKB/Swiss-Prot
      Q8VHL0
      Related
      ENSMUSP00000125114.2, ENSMUST00000160292.8
      Conserved Domains (1) summary
      pfam03253
      Location:111 → 394
      UT; Urea transporter

    2. NM_001171011.1 → NP_001164482.1  urea transporter 1 isoform b

      See identical proteins and their annotated locations for NP_001164482.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform 1. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AK041979, BC062816, BC086673
      Consensus CDS
      CCDS29360.1
      UniProtKB/Swiss-Prot
      Q3U542, Q497G1, Q5RJG2, Q6PDP4, Q8VHL0, Q9CZX3
      Related
      ENSMUSP00000125367.2, ENSMUST00000160639.2
      Conserved Domains (1) summary
      pfam03253
      Location:55 → 338
      UT; Urea transporter

    3. NM_028122.4 → NP_082398.1  urea transporter 1 isoform b

      See identical proteins and their annotated locations for NP_082398.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform 1. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      BC062816, BC086673, BY231473
      Consensus CDS
      CCDS29360.1
      UniProtKB/Swiss-Prot
      Q3U542, Q497G1, Q5RJG2, Q6PDP4, Q8VHL0, Q9CZX3
      Related
      ENSMUSP00000089421.6, ENSMUST00000091813.12
      Conserved Domains (1) summary
      pfam03253
      Location:55 → 338
      UT; Urea transporter

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      78143306..78185334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VHL0.2 GenPept UniProtKB/Swiss-Prot:Q8VHL0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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